Article
Mutation spectrum of PAX6 in Chinese patients with aniridia.
Molecular vision - 1 Jan 2011
Zhang Xiaohui, Wang Panfeng, Li Shiqiang, Xiao Xueshan, Guo Xiangming, Zhang Qingjiong
Abstract excerpt
PURPOSE: To identify mutations in the paired box 6 (PAX6) gene of 33 probands with aniridia and to reveal the mutational spectrum in the Chinese population. METHODS: Unrelated probands with aniridia from 27 newly selected families and six previously analyzed families participated in this study. The coding regions of PAX6 in the 27 new families were analyzed using cycle sequencing. Families that lacked detectable...
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